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Sponsored AI Networking Cookbook: Practical recipes for AI-assisted network automation and development AI Networking Cookbook: Practical recipes for AI-assisted network automation and development

Author

Wenchao Zhang

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Review Oct 2026

Genotype-phenotype correlations in KCNA2 related neurodevelopmental disorder: expanding the clinical and molecular spectrum.

BACKGROUND Pathogenic variants in KCNA2 are associated with developmental and epileptic encephalopathy 32 (DEE32), but genotype-phenotype correlations remain unclear. METHODS Whole-exome sequencing was performed in patients with developmental delay and/or epilepsy. Previously reported KCNA2 variants were reviewed to...

Ji-Yuan Zhang, Song Su, Wan-Dong Hu et al. · 0 citations
Case report Open access Aug 2026

Case Report: A somatic NF1 splice-altering variant identified in lesional tissue in peripheral blood-negative segmental facial neurofibromatosis

This case expands the spectrum of splice-altering NF1 variants and reveals a previously uncharacterized molecular mechanism underlying segmental neurofibromatosis, providing functional evidence that NF1 c.7970+4_7970+7del is a splice-disrupting variant with pathogenic relevance in the context of segmental neurofibromat...

Song Su, Hao-Chen Zou, Yin-Hua Lin et al. · 0 citations

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